Canonical Allele Identifier: CA2658995097

Gene: LHCGR STON1-GTF2A1L

Linked Data

• gnomAD v4: 2-48755616-G-GGCTGCAGCTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC , CM000664.2:g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC	GRCh38
NC_000002.11:g.48982763_48982764insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC , CM000664.1:g.48982763_48982764insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC	GRCh37
NC_000002.10:g.48836267_48836268insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC	NCBI36
NG_008193.1:g.5125_5126insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC
NG_033050.1:g.230700_230701insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC
NG_008193.2:g.5125_5126insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC
NG_033050.2:g.230700_230701insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294954.12:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR) MANE Select	ENSP00000294954.6:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeu...
ENST00000294954.11:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	ENSP00000294954.6:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeu...
ENST00000401907.5:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	ENSP00000385406.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeu...
ENST00000402114.6:c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC (STON1-GTF2A1L)	ENSP00000385701.1:n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAG...
ENST00000403273.5:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	ENSP00000385847.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeu...
ENST00000405626.5:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	ENSP00000386033.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeu...
ENST00000602369.3:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC	ENSP00000473498.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeu...
NM_000233.3:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	NP_000224.2:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeuGln...
NM_001198593.1:c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC (STON1-GTF2A1L)	NP_001185522.1:n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTT...
XM_011532828.1:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	XP_011531130.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeu...
XM_011532829.1:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	XP_011531131.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeu...
XM_011532830.1:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR)	XP_011531132.1:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeu...
NM_000233.4:c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (LHCGR) MANE Select	NP_000224.2:p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeuGln...
NM_001198593.2:c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC (STON1-GTF2A1L)	NP_001185522.1:n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTT...